M1T (p.Met1Thr) variant of CASR (P41180)
M1T (p.Met1Thr) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1467887809
- ClinGen CA354361913
- ClinVar RCV002877444
- ClinVar RCV003388129
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.55
- MetaSVM 0.22
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available